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Childhood onset hereditary spastic paraplegia v1.164 | ABCD1 | Louise Daugherty Publications for gene: ABCD1 were set to 23664929; 11739809; 26049658; 27084228; 11810273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.163 | ABCD1 | Louise Daugherty Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.75 | ABCD1 | Louise Daugherty Source Yorkshire and North East GLH was added to ABCD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.74 | ABCD1 | Louise Daugherty commented on gene: ABCD1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.73 | ABCD1 | Nick Beauchamp reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 61263, 17372139; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.48 | ABCD1 | Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.6 | ABCD1 | James Polke reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis, Adrenoleukodystrophy, 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.5 | ABCD1 | Louise Daugherty Source NHS GMS was added to ABCD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.4 | ABCD1 | Louise Daugherty Source London North GLH was added to ABCD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v1.3 | ABCD1 |
Louise Daugherty Added phenotypes spastic paraparesis; VLCFA accumulation; adrenal failure; Hereditary spastic paraplegia for gene: ABCD1 Publications for gene ABCD1 were changed from 11810273; 27084228; 11739809; 26049658; 23664929 to 23664929; 11739809; 26049658; 27084228; 11810273 Rating Changed from Green List (high evidence) to Green List (high evidence) |
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Childhood onset hereditary spastic paraplegia v1.0 | ABCD1 | Arianna Tucci commented on gene: ABCD1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.32 | ABCD1 | Rebecca Foulger Publications for gene: ABCD1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.31 | ABCD1 | Rebecca Foulger Phenotypes for gene: ABCD1 were changed from adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia; spastic paraparesis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.30 | ABCD1 | Rebecca Foulger Classified gene: ABCD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.30 | ABCD1 | Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.30 | ABCD1 | Rebecca Foulger Gene: abcd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Childhood onset hereditary spastic paraplegia v0.6 | ABCD1 |
Sarah Leigh gene: ABCD1 was added gene: ABCD1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert Review Red,Literature Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ABCD1 were set to adrenal failure; VLCFA accumulation; Hereditary spastic paraplegia |